Canonical Allele Identifier: CA414708133

Gene: PHF6

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.134425247G>A , CM000685.2:g.134425247G>A	GRCh38
NC_000023.10:g.133559277G>A , CM000685.1:g.133559277G>A	GRCh37
NC_000023.9:g.133386943G>A	NCBI36
NG_008886.1:g.56936G>A , LRG_629:g.56936G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001015877.2:c.1015G>A MANE Select	NP_001015877.1:p.Asp339Asn
ENST00000370803.8:c.1015G>A MANE Select	ENSP00000359839.4:p.Asp339Asn
NM_001015877.1:c.1015G>A , LRG_629t1:c.1015G>A	NP_001015877.1:p.Asp339Asn
NM_032458.2:c.1015G>A	NP_115834.1:p.Asp339Asn
NM_032458.3:c.1015G>A	NP_115834.1:p.Asp339Asn
ENST00000332070.7:c.1015G>A	ENSP00000329097.3:p.Asp339Asn
ENST00000370803.7:c.1015G>A	ENSP00000359839.3:p.Asp339Asn
ENST00000625464.2:c.1018G>A	ENSP00000487420.1:p.Asp340Asn
ENST00000685553.1:c.*934G>A	ENSP00000510193.1:n.*934G>A
ENST00000687496.1:c.913G>A	ENSP00000509551.1:p.Asp305Asn
ENST00000688598.1:c.913G>A	ENSP00000510410.1:p.Asp305Asn
ENST00000691812.1:c.1015G>A	ENSP00000510211.1:p.Asp339Asn
ENST00000693759.1:c.*627G>A	ENSP00000509518.1:n.*627G>A